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Page 1
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B; ECYT-3 consortium. Delamare M, et al. Among authors: rimbert a. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor.
Rimbert A, Dalila N, Wolters JC, Huijkman N, Smit M, Kloosterhuis N, Riemsma M, van der Veen Y, Singla A, van Dijk F; Biobank-Based Integrative Omics Studies Consortium; Frikke-Schmidt R, Burstein E, Tybjærg-Hansen A, van de Sluis B, Kuivenhoven JA. Rimbert A, et al. Eur Heart J. 2020 Mar 1;41(9):1040-1053. doi: 10.1093/eurheartj/ehz727. Eur Heart J. 2020. PMID: 31630160
Location of intracranial aneurysms is the main factor associated with rupture in the ICAN population.
Rousseau O, Karakachoff M, Gaignard A, Bellanger L, Bijlenga P, Constant Dit Beaufils P, L'Allinec V, Levrier O, Aguettaz P, Desilles JP, Michelozzi C, Marnat G, Vion AC, Loirand G, Desal H, Redon R, Gourraud PA, Bourcier R; ICAN Investigators. Rousseau O, et al. J Neurol Neurosurg Psychiatry. 2021 Feb;92(2):122-128. doi: 10.1136/jnnp-2020-324371. Epub 2020 Oct 23. J Neurol Neurosurg Psychiatry. 2021. PMID: 33097563
PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.
Roudaut M, Idriss S, Caillaud A, Girardeau A, Rimbert A, Champon B, David A, Lévêque A, Arnaud L, Pichelin M, Prieur X, Prat A, Seidah NG, Zibara K, Le May C, Cariou B, Si-Tayeb K. Roudaut M, et al. Among authors: rimbert a. Stem Cell Reports. 2021 Dec 14;16(12):2958-2972. doi: 10.1016/j.stemcr.2021.10.004. Epub 2021 Nov 4. Stem Cell Reports. 2021. PMID: 34739847 Free PMC article.
Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.
Rimbert A, Yeung MW, Dalila N, Thio CHL, Yu H, Loaiza N, Oldoni F, van der Graaf A, Wang S, Said MA, Blauw LL, Girardeau A, Bray L, Caillaud A, Bloks VW, Marrec M, Moulin P, Rensen PCN, van de Sluis B, Snieder H, Di Filippo M, van der Harst P, Tybjaerg-Hansen A, Zimmerman P, Cariou B, Kuivenhoven JA. Rimbert A, et al. Arterioscler Thromb Vasc Biol. 2022 Oct;42(10):1262-1271. doi: 10.1161/ATVBAHA.122.317514. Epub 2022 Sep 1. Arterioscler Thromb Vasc Biol. 2022. PMID: 36047410 Free article.
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells.
Caillaud A, Lévêque A, Thédrez A, Girardeau A, Canac R, Bray L, Baudic M, Barc J, Gaborit N, Lamirault G, Gardie B, Idriss S, Rimbert A, Le May C, Cariou B, Si-Tayeb K. Caillaud A, et al. Among authors: rimbert a. STAR Protoc. 2022 Dec 16;3(4):101680. doi: 10.1016/j.xpro.2022.101680. Epub 2022 Sep 16. STAR Protoc. 2022. PMID: 36115027 Free PMC article.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: rimbert a. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F. Maaziz N, et al. Among authors: rimbert a. Genes (Basel). 2023 May 11;14(5):1066. doi: 10.3390/genes14051066. Genes (Basel). 2023. PMID: 37239426 Free PMC article.
51 results